R78K (p.Arg78Lys) variant of GRM5 (P41594)
R78K (p.Arg78Lys) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
R78K (p.Arg78Lys) variant details
- p.Arg78Lys
- cosmic curated COSV59592
- ExAC rs772818735
- TOPMed rs772818735
- gnomAD rs772818735
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.61
- MetaLR 0.59
- MetaSVM 0.11
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00038)